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Bi-allelic missense ABCA3 mutations in a patient with childhood ILD who reached adulthood
Children with ABCA3 mutations may survive beyond infancy and reach adulthood. Genetic mechanisms should always be examined in adult patients with childhood onset ILD and molecular analysis should be performed accordingly in specialised referral centres. http://bit.ly/2LzMNOE
| Autores principales: | , , , , , , , , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
European Respiratory Society
2019
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6646961/ https://www.ncbi.nlm.nih.gov/pubmed/31360696 http://dx.doi.org/10.1183/23120541.00066-2019 |
| _version_ | 1783437637500010496 |
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| author | Manali, Effrosyni D. Legendre, Marie Nathan, Nadia Kannengiesser, Caroline Coulomb-L'Hermine, Aurore Tsiligiannis, Theofanis Tomos, Pericles Griese, Matthias Borie, Raphael Clement, Annick Amselem, Serge Crestani, Bruno Papiris, Spyros A. |
| author_facet | Manali, Effrosyni D. Legendre, Marie Nathan, Nadia Kannengiesser, Caroline Coulomb-L'Hermine, Aurore Tsiligiannis, Theofanis Tomos, Pericles Griese, Matthias Borie, Raphael Clement, Annick Amselem, Serge Crestani, Bruno Papiris, Spyros A. |
| author_sort | Manali, Effrosyni D. |
| collection | PubMed |
| description | Children with ABCA3 mutations may survive beyond infancy and reach adulthood. Genetic mechanisms should always be examined in adult patients with childhood onset ILD and molecular analysis should be performed accordingly in specialised referral centres. http://bit.ly/2LzMNOE |
| format | Online Article Text |
| id | pubmed-6646961 |
| institution | National Center for Biotechnology Information |
| language | English |
| publishDate | 2019 |
| publisher | European Respiratory Society |
| record_format | MEDLINE/PubMed |
| spelling | pubmed-66469612019-07-29 Bi-allelic missense ABCA3 mutations in a patient with childhood ILD who reached adulthood Manali, Effrosyni D. Legendre, Marie Nathan, Nadia Kannengiesser, Caroline Coulomb-L'Hermine, Aurore Tsiligiannis, Theofanis Tomos, Pericles Griese, Matthias Borie, Raphael Clement, Annick Amselem, Serge Crestani, Bruno Papiris, Spyros A. ERJ Open Res Original Research Letter Children with ABCA3 mutations may survive beyond infancy and reach adulthood. Genetic mechanisms should always be examined in adult patients with childhood onset ILD and molecular analysis should be performed accordingly in specialised referral centres. http://bit.ly/2LzMNOE European Respiratory Society 2019-07-22 /pmc/articles/PMC6646961/ /pubmed/31360696 http://dx.doi.org/10.1183/23120541.00066-2019 Text en Copyright ©ERS 2019 http://creativecommons.org/licenses/by-nc/4.0/This article is open access and distributed under the terms of the Creative Commons Attribution Non-Commercial Licence 4.0. |
| spellingShingle | Original Research Letter Manali, Effrosyni D. Legendre, Marie Nathan, Nadia Kannengiesser, Caroline Coulomb-L'Hermine, Aurore Tsiligiannis, Theofanis Tomos, Pericles Griese, Matthias Borie, Raphael Clement, Annick Amselem, Serge Crestani, Bruno Papiris, Spyros A. Bi-allelic missense ABCA3 mutations in a patient with childhood ILD who reached adulthood |
| title | Bi-allelic missense ABCA3 mutations in a patient with childhood ILD who reached adulthood |
| title_full | Bi-allelic missense ABCA3 mutations in a patient with childhood ILD who reached adulthood |
| title_fullStr | Bi-allelic missense ABCA3 mutations in a patient with childhood ILD who reached adulthood |
| title_full_unstemmed | Bi-allelic missense ABCA3 mutations in a patient with childhood ILD who reached adulthood |
| title_short | Bi-allelic missense ABCA3 mutations in a patient with childhood ILD who reached adulthood |
| title_sort | bi-allelic missense abca3 mutations in a patient with childhood ild who reached adulthood |
| topic | Original Research Letter |
| url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6646961/ https://www.ncbi.nlm.nih.gov/pubmed/31360696 http://dx.doi.org/10.1183/23120541.00066-2019 |
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